Podcast
Questions and Answers
Which enzyme deficiency is associated with increased blood pressure?
Which enzyme deficiency is associated with increased blood pressure?
- 11beta-Hydroxylase (correct)
- 17 Alpha-Hydroxylase (correct)
- 21-Hydroxylase
- All of the above
Which enzyme deficiency is characterized by a decrease in androstenedione levels?
Which enzyme deficiency is characterized by a decrease in androstenedione levels?
- 11beta-Hydroxylase
- 17 Alpha-Hydroxylase (correct)
- 21-Hydroxylase
- None of the above
Which enzyme deficiency presents with severe hypertension and precocious puberty in childhood?
Which enzyme deficiency presents with severe hypertension and precocious puberty in childhood?
- 11beta-Hydroxylase (correct)
- 17 Alpha-Hydroxylase
- 21-Hydroxylase
- All of the above
Individuals with 21-Hydroxylase deficiency often experience what symptom?
Individuals with 21-Hydroxylase deficiency often experience what symptom?
Which of the following is NOT a common presentation of 17 Alpha-Hydroxylase deficiency in females?
Which of the following is NOT a common presentation of 17 Alpha-Hydroxylase deficiency in females?
What physiological response is observed with 11beta-Hydroxylase deficiency?
What physiological response is observed with 11beta-Hydroxylase deficiency?
Which presentation is common in individuals with 21-Hydroxylase deficiency?
Which presentation is common in individuals with 21-Hydroxylase deficiency?
How does 17 Alpha-Hydroxylase deficiency affect potassium levels?
How does 17 Alpha-Hydroxylase deficiency affect potassium levels?
What hormone level is affected in 17 Alpha-Hydroxylase deficiency?
What hormone level is affected in 17 Alpha-Hydroxylase deficiency?
What laboratory change is typical for 21-Hydroxylase deficiency?
What laboratory change is typical for 21-Hydroxylase deficiency?
What effect does a deficiency in 11beta-Hydroxylase have on potassium levels?
What effect does a deficiency in 11beta-Hydroxylase have on potassium levels?
Which of the following symptoms is most commonly associated with 21-Hydroxylase deficiency?
Which of the following symptoms is most commonly associated with 21-Hydroxylase deficiency?
In males with 17 Alpha-Hydroxylase deficiency, which condition is commonly observed?
In males with 17 Alpha-Hydroxylase deficiency, which condition is commonly observed?
What is a notable laboratory change in patients with 21-Hydroxylase deficiency?
What is a notable laboratory change in patients with 21-Hydroxylase deficiency?
What physiological change is typically observed in individuals with a deficiency in 17 Alpha-Hydroxylase?
What physiological change is typically observed in individuals with a deficiency in 17 Alpha-Hydroxylase?
Which enzyme deficiency is most common and presents with hypotension and salt wasting in infancy?
Which enzyme deficiency is most common and presents with hypotension and salt wasting in infancy?
Which enzyme deficiency leads to an increase in 17-hydroxyprogesterone levels?
Which enzyme deficiency leads to an increase in 17-hydroxyprogesterone levels?
Which of the following is NOT a common presentation in females with 17 Alpha-Hydroxylase deficiency?
Which of the following is NOT a common presentation in females with 17 Alpha-Hydroxylase deficiency?
Which enzyme deficiency is associated with increased renin activity and decreased blood pressure?
Which enzyme deficiency is associated with increased renin activity and decreased blood pressure?
Which enzyme deficiency can present with precocious puberty in both males and females?
Which enzyme deficiency can present with precocious puberty in both males and females?
What is the primary physiological change associated with 11beta-Hydroxylase deficiency?
What is the primary physiological change associated with 11beta-Hydroxylase deficiency?
Which presentation is expected in females with 21-Hydroxylase deficiency?
Which presentation is expected in females with 21-Hydroxylase deficiency?
How does 17 Alpha-Hydroxylase deficiency present in males?
How does 17 Alpha-Hydroxylase deficiency present in males?
What laboratory change is typically observed in individuals with 17 Alpha-Hydroxylase deficiency?
What laboratory change is typically observed in individuals with 17 Alpha-Hydroxylase deficiency?
What physiological parameter is typically decreased in individuals with 21-Hydroxylase deficiency?
What physiological parameter is typically decreased in individuals with 21-Hydroxylase deficiency?
What physiological consequence is directly linked to 11beta-Hydroxylase deficiency?
What physiological consequence is directly linked to 11beta-Hydroxylase deficiency?
Which presentation is typical for individuals with a deficiency in 17 Alpha-Hydroxylase?
Which presentation is typical for individuals with a deficiency in 17 Alpha-Hydroxylase?
How does 21-Hydroxylase deficiency affect laboratory values?
How does 21-Hydroxylase deficiency affect laboratory values?
Which of the following is a characteristic change in individuals with 11beta-Hydroxylase deficiency?
Which of the following is a characteristic change in individuals with 11beta-Hydroxylase deficiency?
What abnormality is commonly observed in males with 21-Hydroxylase deficiency?
What abnormality is commonly observed in males with 21-Hydroxylase deficiency?
Flashcards
11beta-Hydroxylase Deficiency
11beta-Hydroxylase Deficiency
A condition where the body cannot produce sufficient aldosterone, leading to low blood pressure and high potassium levels.
17 Alpha-Hydroxylase Deficiency
17 Alpha-Hydroxylase Deficiency
A genetic disorder affecting steroid hormone production, leading to hypertension and a lack of sexual development.
21-Hydroxylase Deficiency
21-Hydroxylase Deficiency
The most common enzyme deficiency in steroidogenesis, resulting in the production of inadequate cortisol and aldosterone.
Aldosterone
Aldosterone
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Cortisol
Cortisol
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Mineralocorticoids (e.g., Aldosterone)
Mineralocorticoids (e.g., Aldosterone)
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What is the effect of a 11beta-hydroxylase deficiency on blood pressure and potassium levels?
What is the effect of a 11beta-hydroxylase deficiency on blood pressure and potassium levels?
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What is the effect of a 17 Alpha-hydroxylase deficiency on sexual development?
What is the effect of a 17 Alpha-hydroxylase deficiency on sexual development?
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What is the most common enzyme deficiency in steroidogenesis and what are its effects?
What is the most common enzyme deficiency in steroidogenesis and what are its effects?
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What is the role of 11beta-hydroxylase and what happens when it's deficient?
What is the role of 11beta-hydroxylase and what happens when it's deficient?
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What is the impact of 17 Alpha-hydroxylase deficiency on hormone production and sexual development?
What is the impact of 17 Alpha-hydroxylase deficiency on hormone production and sexual development?
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What is 11beta-Hydroxylase deficiency?
What is 11beta-Hydroxylase deficiency?
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What is 17 Alpha-Hydroxylase deficiency?
What is 17 Alpha-Hydroxylase deficiency?
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What is 21-Hydroxylase deficiency?
What is 21-Hydroxylase deficiency?
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What is aldosterone?
What is aldosterone?
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What is cortisol?
What is cortisol?
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What are mineralocorticoids?
What are mineralocorticoids?
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What are the effects of 11beta-hydroxylase deficiency?
What are the effects of 11beta-hydroxylase deficiency?
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What are the effects of 17 Alpha-hydroxylase deficiency?
What are the effects of 17 Alpha-hydroxylase deficiency?
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What are the effects of 21-hydroxylase deficiency?
What are the effects of 21-hydroxylase deficiency?
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How does 11beta-hydroxylase deficiency affect mineralocorticoids?
How does 11beta-hydroxylase deficiency affect mineralocorticoids?
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How does 17 Alpha-hydroxylase deficiency impact sexual development and mineralocorticoids?
How does 17 Alpha-hydroxylase deficiency impact sexual development and mineralocorticoids?
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Study Notes
Enzyme Deficiencies and Steroidogenesis
-
11beta-Hydroxylase Deficiency:
- Mineralocorticoids (Aldosterone) are increased
- 11-deoxycorticosterone is decreased
- Aldosterone is decreased
- Potassium (K+) is decreased
- Blood pressure is increased
- Sex hormones are increased
- Renin activity is decreased
- Presentation: Severe hypertension; presents in childhood (precocious puberty); virilization in females (excess androgens)
-
17 Alpha-Hydroxylase Deficiency:
- Mineralocorticoids (Aldosterone) are increased
- Potassium (K+) is decreased
- Blood pressure is increased
- Sex hormones are decreased
- Androstenedione (precursor to testosterone and estrogens) is decreased
- Presentation: Severe hypertension; lack of sexual development (low pubic hair), primary amenorrhea in females; normal genitalia in females and males lack sexual development
-
21-Hydroxylase Deficiency:
- Mineralocorticoids (Aldosterone) is decreased
- Potassium (K+) is increased
- Blood pressure is decreased
- Sex hormones are increased
- Renin activity is increased
- 17-hydroxyprogesterone is increased
- Presentation: Most common; hypotension; presents in infancy with salt wasting; childhood (precocious puberty); virilization in females (excess androgens)
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